Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature

Hobson‐Webb, Lisa D.; Proia, Alan D.; Thurberg, Beth L.; Banugaria, Suhrad G.; Prater, Sean N.; Kishnani, Priya S.

doi:10.1016/j.ymgme.2012.05.007

Cited by 75 publications

(85 citation statements)

References 35 publications

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“…Glycogen accumulation within the skeletal muscles as well as the organs containing the smooth muscle (the bladder, intestine, and esophagus) has been demonstrated in autopsy reports (Hobson-Webb et al 2012). These findings support the various clinical symptoms of the disease seen in this population such as urinary and fecal incontinence, dysphagia, gastroesophageal reflux, and gastrointestinal dysmotility.…”

Section: Introductionsupporting

confidence: 62%

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Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

et al. 2014

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Objective: To study the prevalence of lower urinary tract symptoms (LUTS) and incontinence in lateonset Pompe disease (LOPD)Methods: Adult LOPD patients seen at the Duke Pompe Clinic were prospectively recruited and asked to complete validated questionnaires on LUTS and incontinence as part of an IRB-approved study. Patient demographics as well as previous urologic history were reviewed.Results: 35 patients with LOPD were included in the study (17 males and 18 females). The median age was 51.8 (range 18-72 years of age). Of these patients, 27/35 were receiving enzyme replacement therapy (ERT) with median duration of 54 months (range 5-88 months). In the male patients, 9/17 (53%) described their stream as dribbling, weak, or intermittent, and 9/17 (53%) complained of postvoid dribbling. In addition 38% of the men were unable to stop their urination midstream. In the female patients, the most common complaint was urinary incontinence, reported in 14/18 (78%). In addition, 7/18 (39%) complained of post-void dribbling, and 47% were unable to stop their urination midstream. Bowel incontinence was reported in 45% of patients. There was a significant association between urinary symptoms and lower extremity function scores and duration of ERT (p ¼ 0.005 and p ¼ 0.04, respectively)Conclusions: This is the first study in a large cohort of LOPD patients that demonstrates LUTS and incontinence occur at a high rate. This study emphasizes the spectrum of LOPD is beyond isolated gross motor and pulmonary involvement and has a significant effect on the lower urinary tract.

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Section: Introductionsupporting

confidence: 62%

“…Autopsy reports have shown glycogen deposition within the smooth muscle of bladder (Hobson-Webb et al 2012). This is also demonstrated in the animal model of infantile Pompe disease (Bijvoet et al 1998).…”

Section: Discussionmentioning

confidence: 77%

Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

et al. 2014

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“…This finding could provide a pathophysiologic mechanism for small and large intestinal dysmotility and bowel control in this cohort. Bowel dysfunction and urinary incontinence have been reported in adults with LOPD, likely related to decreased anal sphincter pressure and fatty infiltration of pelvic floor musculature (Remiche et al 2012;McNamara et al 2015), along with glycogen accumulation in smooth muscle of the bladder (Hobson-Webb et al 2012), and within neurons of the submucosal (Meissner's) and myenteric (Auerbach's) plexuses of the small and large intestines (Bernstein et al 2010). We have observed urinary and bowel incontinence in several long-term survivors with infantile Pompe disease, an area that would benefit from long-term follow-up studies (Tan et al 2013).…”

Section: Discussionmentioning

confidence: 99%

“…Some of the complications, such as bowel and urinary incontinence, arterial aneurysms, and dysphagia, overlap with known complications in late-onset Pompe disease (LOPD) (El-Gharbawy et al 2011;Prater et al 2012;Hobson-Webb et al 2012;Laforêt et al 2008). Additional findings, such as cardiac arrhythmias and ocular refractory errors, are emerging (Prakalapakorn et al 2014).…”

Section: Introductionmentioning

confidence: 99%

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

2015

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“…abdominal pain, poor weight gain, chronic diarrhoea, postprandial discomfort) and Gaucher disease (weight loss, cachexia, abdominal pain) and were reported to respond well to ERT (Verderese et al 1993;Banikazemi et al 2005). The lysosomal accumulation of glycogen in smooth muscles in different organs was shown in a GAA knockout mouse model (Bijvoet et al 1999), in infantile Pompe disease (Winkel et al 2003) and in autopsies (including the organs of the gastrointestinal tract and the urinary tract; Swash et al 1985;van der Walt et al 1987;Kobayashi et al 2010;Hobson-Webb et al 2012 ), in biopsies of the arrector pili muscle (Katona et al 2014), and in imaging studies of cerebral vessels of adult Pompe disease cases (Sacconi et al 2010;Hobson-Webb et al 2012).…”

Section: Introductionmentioning

confidence: 99%

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

et al. 2014

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Objective: To determine the frequency and impact of gastrointestinal symptoms, and bowel and urinary incontinence, as this is currently unknown in adults with Pompe disease.Methods: Adult German Pompe patients and age-and gender-matched controls were asked about symptoms in the upper and lower intestinal tract as well as urinary incontinence using the Gastrointestinal Symptoms Questionnaire and the International Consultation on Incontinence Questionnaires for Bowel Symptoms and Urinary Incontinence.Results: The overall response rate was 78%; 57 patients and 57 controls participated. The mean age of the patients was 48.3 years AE14.7 (28 female, 29 male). 84% of patients were receiving enzyme replacement therapy. Stool urgency, diarrhoea, and urinary urge incontinence were reported significantly more frequently in patients compared to the age-and gender-matched controls (55%, 56%, 33% vs. 20%, 18%, 7%). 20% of Pompe patients used loperamide daily against diarrhoea. No other gastrointestinal tract-related symptoms were reported to occur more frequently in Pompe patients than in controls.Conclusions: Compared to age-and gender-matched controls, both urinary and bowel incontinence occur in a higher frequency in adults with Pompe disease and have a major impact on daily life.

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Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature

Cited by 75 publications

References 35 publications

Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

Expanding Our Understanding of Lower Urinary Tract Symptoms and Incontinence in Adults with Pompe Disease

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

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